title: Moyamoya disease associated with asymptomatic mosaic Turner syndrome: a rare cause of hemorrhagic stroke.
abstract: Moyamoya disease is a rare cerebrovascular anomaly involving the intracranial carotid arteries that can present clinically with either ischemic or hemorrhagic disease. Moyamoya syndrome, indistinguishable from moyamoya disease at presentation, is associated with multiple clinical conditions including neurofibromatosis type 1, autoimmune disease, prior radiation therapy, Down syndrome, and Turner syndrome. We present the first reported case of an adult patient with previously unrecognized mosaic Turner syndrome with acute subarachnoid and intracerebral hemorrhage as the initial manifestation of moyamoya syndrome. A 52-year-old woman was admitted with a subarachnoid hemorrhage with associated flame-shaped intracerebral hemorrhage in the left frontal lobe. Physical examination revealed short stature, pectus excavatum, small fingers, micrognathia, and mild facial dysmorphism. Cerebral angiography showed features consistent with bilateral moyamoya disease, aberrant intrathoracic vessels, and an unruptured 4-mm right superior hypophyseal aneurysm. Genetic analysis confirmed a diagnosis of mosaic Turner syndrome. Our case report is the first documented presentation of adult moyamoya syndrome with subarachnoid and intracerebral hemorrhage as the initial presentation of mosaic Turner syndrome. It illustrates the utility of genetic evaluation in patients with cerebrovascular disease and dysmorphism.
authors.affiliation: Department of Neurosurgery, University Hospitals Case Medical Center, Neurological Institute, Case Western Reserve University School of Medicine, Cleveland, Ohio.
authors.forename: Sunil
authors.initials: S
authors.lastname: Manjila
authors.affiliation: Department of Neurology, University Hospitals Case Medical Center, Neurological Institute, Case Western Reserve University School of Medicine, Cleveland, Ohio.
authors.forename: Benjamin R
authors.initials: BR
authors.lastname: Miller
authors.affiliation: Department of Neurology, University Hospitals Case Medical Center, Neurological Institute, Case Western Reserve University School of Medicine, Cleveland, Ohio.
authors.forename: Anitha
authors.initials: A
authors.lastname: Rao-Frisch
authors.affiliation: Department of Neurosurgery, University Hospitals Case Medical Center, Neurological Institute, Case Western Reserve University School of Medicine, Cleveland, Ohio.
authors.forename: Balint
authors.initials: B
authors.lastname: Otvos
authors.affiliation: Department of Genetics, University Hospitals Case Medical Center, Neurological Institute, Case Western Reserve University School of Medicine, Cleveland, Ohio.
authors.forename: Anna
authors.initials: A
authors.lastname: Mitchell
authors.affiliation: Department of Neurosurgery, University Hospitals Case Medical Center, Neurological Institute, Case Western Reserve University School of Medicine, Cleveland, Ohio.
authors.forename: Nicholas C
authors.initials: NC
authors.lastname: Bambakidis
authors.affiliation: Department of Neurology, University Hospitals Case Medical Center, Neurological Institute, Case Western Reserve University School of Medicine, Cleveland, Ohio. Electronic address: michael.degeorgia@UHhospitals.org.
authors.forename: Michael A
authors.initials: MA
authors.lastname: De Georgia
mesh_terms: D058070:Asymptomatic Diseases; D002533:Cerebral Angiography / Q000379:methods; D002543:Cerebral Hemorrhage / Q000175:diagnosis / Q000209:etiology*; D005260:Female; D005820:Genetic Testing; D006801:Humans; D008875:Middle Aged; D009030:Mosaicism; D009072:Moyamoya Disease / Q000150:complications* / Q000175:diagnosis; D012307:Risk Factors; D020521:Stroke / Q000175:diagnosis / Q000209:etiology*; D013345:Subarachnoid Hemorrhage / Q000175:diagnosis / Q000209:etiology*; D014057:Tomography, X-Ray Computed; D014424:Turner Syndrome / Q000150:complications* / Q000175:diagnosis / Q000235:genetics
keywords: Mosaic Turner syndrome; genetics; moyamoya syndrome; subarachnoid hemorrhage